Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.
about
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlationsAre splicing mutations the most frequent cause of hereditary disease?SLC26A4 mutations in patients with moderate to severe hearing lossEvidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping.Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.Neuro-otological findings in Pendred syndrome.Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease.
P2860
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P2860
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Splice-site mutation in the PD ...... deafness in Pendred syndrome.
@en
Splice-site mutation in the PD ...... deafness in Pendred syndrome.
@nl
type
label
Splice-site mutation in the PD ...... deafness in Pendred syndrome.
@en
Splice-site mutation in the PD ...... deafness in Pendred syndrome.
@nl
prefLabel
Splice-site mutation in the PD ...... deafness in Pendred syndrome.
@en
Splice-site mutation in the PD ...... deafness in Pendred syndrome.
@nl
P2093
P2860
P50
P1433
P1476
Splice-site mutation in the PD ...... deafness in Pendred syndrome.
@en
P2093
P2860
P304
P356
10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K
P577
1999-01-01T00:00:00Z